ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.*248C>A (rs886061314)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000289834 SCV000462176 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344749 SCV000462177 uncertain significance Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404470 SCV000462178 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314535 SCV000462179 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369254 SCV000462180 uncertain significance Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing

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